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研究兴趣

论文共 13 篇作者统计合作学者相似作者

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Loss of DOT1L Function Disrupts Neuronal Transcription, Animal Behavior, and Leads to a Novel Neurodevelopmental Disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, Ashish R Deshwar, Philip Campbell, Josephine Millard, Rachel Lee, Annastelle Cohen, Alekh Paranjapye, Víctor Faundes, Gabriela M Repetto,Caoimhe McKenna, Amelle L Shillington,Chanika Phornphutkul, Grazia Ms Mancini,Rachel Schot, Tahsin Stefan Barakat, Christopher M Richmond, Julie Lauzon, Ahmed Ibrahim Elsayed Ibrahim, Daniel Natera-de Benito, Carlos Ortez, Berta Estevez-Arias,François Lecoquierre, Kévin Cassinari, Anne-Marie Guerrot,Jonathan Levy, Xenia Latypova, Alain Verloes, A Micheil Innes, Xiao-Ru Yang,Siddharth Banka, Katharina Vill, Maureen Jacob, Michael Kruer, Peter Skidmore, Carolina I Galaz-Montoya, Somayeh Bakhtiari, Jessica L Mester,Michael Granato, Karim-Jean Armache, Gregory Costain,Erica Korb
medRxiv the preprint server for health sciences (2024)
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Novel Homozygous Missense Variant in GTF2E2 Causes Non-Photosensitive Trichothiodystrophy Type 6
Brian Sperelakis Beedham,Lyse Ruaud,Yoann Vial,Myriam Rachid, Louise Goujon, Alain Verloes,Anne-Claude Tabet,Bourrat Emmanuelle,Jonathan Levy
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 141-142
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Role of CACNG2 Variants in Human Pathology
Sara Cabet, Atul Maheshwari,Jeffrey Noebels, Alica Goldman, Mark Farrant, Stuart Cull-Candy,Ian Coombs,Cecile Bats,Julien Courchet,Dorota Studniarczyk, Margot Vallen,Sylvia Stockler, David Koehn, Kristal Louie,Candace Myers, Heather Jaspan, Jennifer Cech, Jason Lockrow, Elizabeth Gerard,Gemma Louise Carvill,Marwan Shinawi,Aida Telegrafi, Lance Rodan, Yuri Zarate,Jillian G. Buchan, Kenzie Pulsifer, Ebba Alkhunaizi, Vanda McNiven, Samantha Olson,Jennifer Morrison,Patricia Wheeler,Kirsty McWalter,Kristin Monaghan,Carrie Costin,Jill A. Rosenfeld,Almuth Caliebe, Nadine Hornig, Hadil Alrohaif, Reem M. Elshafie,Jonathan Levy,Anne-Claude Tabet, Vincent Trebossen, Clothilde Boulay,Gabrielle Rudolf,Bertrand Isidor, Benjamin Cogne,Damien Sanlaville,Gaetan Lesca
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 496-496
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Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies
Antonia M. Stehr,Jerica Lenberg,Jennifer Friedman, Dries Dobbelaere, Apolline Imbard,Jonathan Levy,Sarah Donoghue, Nicolas Derive, Radka Stoeva,Paul Gueguen, Michael Zech
CLINICAL GENETICS (2024)
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Expanding the Phenotype of GTF2E2‐associated Trichothiodystrophy
Brian Sperelakis‐Beedham,Lyse Ruaud,Yoann Vial,Myriam Rachid,Faustine Ageorges, Louise Goujon,Alain Verloes,Anne‐Claude Tabet,E. Bourrat,Jonathan Lévy
JEADV Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereologyno. 3 (2023)
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作者统计

#Papers: 13

#Citation: 77

H-Index: 2

G-Index: 8

Sociability: 6

Diversity: 0

Activity: 0

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